Canonical Allele Identifier: CA120988
Gene: G6PD HGNC NCBI

Linked Data

ClinVar Variation Id: 10386
dbSNP Id: rs137852327

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533122C>T , CM000685.2:g.154533122C>T GRCh38
NC_000023.10:g.153761337C>T , CM000685.1:g.153761337C>T GRCh37
NC_000023.9:g.153414531C>T NCBI36
NG_009015.2:g.19451G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000393564.7:c.871G>A ENSP00000377194.2:p.Val291Met
ENST00000439227.6:c.874G>A ENSP00000395599.2:p.Val292Met
ENST00000696420.1:c.871G>A ENSP00000512615.1:p.Val291Met
ENST00000696421.1:c.871G>A ENSP00000512616.1:p.Val291Met
ENST00000696422.1:c.734G>A
ENST00000696423.1:c.737G>A
ENST00000696424.1:c.723G>A ENSP00000512619.1:p.Arg241=
ENST00000696425.1:c.865-320G>A ENSP00000512620.1:n.865-320G>A
ENST00000696426.1:c.*331G>A ENSP00000512621.1:n.*331G>A
ENST00000696427.1:c.878G>A ENSP00000512622.1:p.Gly293Asp
ENST00000696428.1:c.*713G>A ENSP00000512623.1:n.*713G>A
ENST00000696429.1:c.871G>A ENSP00000512624.1:p.Val291Met
ENST00000696430.1:c.871G>A ENSP00000512625.1:p.Val291Met
ENST00000393562.10:c.871G>A MANE Select ENSP00000377192.3:p.Val291Met
ENST00000369620.6:c.1009G>A ENSP00000358633.2:p.Val337Met
ENST00000393562.6:c.961G>A ENSP00000377192.2:p.Val321Met
ENST00000393564.6:c.871G>A ENSP00000377194.2:p.Val291Met
ENST00000439227.5:c.874G>A ENSP00000395599.1:p.Val292Met
ENST00000440967.5:c.874G>A ENSP00000400648.1:p.Val292Met
ENST00000621232.4:c.871G>A ENSP00000483686.1:p.Val291Met
NM_000402.4:c.961G>A NP_000393.4:p.Val321Met
NM_001042351.2:c.871G>A NP_001035810.1:p.Val291Met
XM_005274657.2:c.964G>A XP_005274714.1:p.Val322Met
XM_005274658.2:c.874G>A XP_005274715.1:p.Val292Met
XM_011531132.1:c.958-320G>A XP_011529434.1:n.958-320G>A
NM_001360016.2:c.871G>A MANE Select NP_001346945.1:p.Val291Met
NM_001042351.3:c.871G>A NP_001035810.1:p.Val291Met